lysosomal acid alpha-glucosidase
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:enzyme
|
| gptkbp:alternativeName |
acid alpha-glucosidase
acid maltase |
| gptkbp:associatedWith |
gptkb:Pompe_disease
|
| gptkbp:biologicalProcess |
glycogen catabolic process
|
| gptkbp:CASNumber |
9001-42-7
|
| gptkbp:clinical_use |
enzyme replacement therapy for Pompe disease
|
| gptkbp:deficiencyCauses |
glycogen accumulation in lysosomes
|
| gptkbp:EC_number |
3.2.1.20
|
| gptkbp:enzymeClassification |
gptkb:hydrolase
|
| gptkbp:expressedIn |
gptkb:human
mammals |
| gptkbp:function |
hydrolyzes alpha-1,4 and alpha-1,6 linkages of glycogen
|
| gptkbp:gene |
gptkb:GAA
|
| gptkbp:locatedOnChromosome |
17q25.3
|
| gptkbp:location |
gptkb:lysosome
|
| gptkbp:OMIM |
606800
|
| gptkbp:product |
glucose
|
| gptkbp:substrate |
gptkb:glycogen
|
| gptkbp:UniProtID |
P10253
|
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_II
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
lysosomal acid alpha-glucosidase
|